RASSF4

protein-coding

Ras association domain family member 4, the group of Ras association domain family

Gene summary

The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]

MANE transcript

NM_032023.4

Inheritance

—

ClinVar variants

U:65B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.06

Max pathogenic AF

—

Genomic locus

chr10:44,959,407-44,995,891

External References & Databases

Ensembl (ENSG00000107551)

Transcript & Mutation Effects

hg38 • Region Span ~36.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RASSF4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 63

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032023.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			59 clinvar	4 clinvar	4 clinvar	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	65	5	4	74

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032023.4	RefSeq	NP_114412.2	10	MANE Select
ENST00000340258.10	Ensembl	ENSP00000339692.4	10	MANE Select
ENST00000427758.5	Ensembl	ENSP00000409767.1	4	Standard
ENST00000428466.1	Ensembl	ENSP00000413468.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Hippo signaling pathway - multiple species - Homo sapiens (human)

Biological Process

cell cycle
signal transduction

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340258
Coding exons: 10
Length: 36485
Individuals with no LoFs: 125633
Homozygous LoFs: 0
Heterozygous LoFs: 115
Defined: 125748
p: 0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.140	192	198	0.972	0.0000123	2090
Missense (PolyPhen)		71	83.787	0.84739		931
Synonymous	-0.521	88	82.0	1.07	0.00000528	610
Loss of Function	-0.231	19	17.9	1.06	8.42e-7	215

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.0015	0.0015	notable
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00036	0.00035	rare
South Asian	0.00023	0.00023	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest. {ECO:0000269|PubMed:15574778}.;

Recessive Scores

pRec: 0.0932

Intolerance Scores

LoFtool: 0.917
RVIS EVS: 0.73
RVIS percentile EVS: 86.27

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.602

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium